WHAT DOES Oreana NEONATAL SCREENING TEST FOR?
Oreana screens for 106 genetic conditions that meet several of the following criteria:
Can be identified early, before the onset of detrimental, often irreversible symptoms
Can cause affected infants to degenerate very quickly without appropriate management
Are treatable, or could be manageable via tailored diet, supplements or medications
Have high incidence in the population
Have moderate to severe clinical phenotype, with variable expression of clinical symptoms
Early interventions could halt the onset of symptoms or limit their effect
Prompt identification and timely treatmentm of affected infants could prevent or minimize serious, life-long consequences such as:
Oreana includes Autosomal Recessive, Autosomal Dominant and X-Linked genetic conditions of metabolic, endocrine and haemoglobin nature, as well as hearing loss disorders, among others. For a complete list of the 106 diseases and 142 genes tested by Oreana, please visit www.nipd.com/oreanapanel.
Oreana tests for most conditions included in the 'Recommended Uniform Screening Panel' which is a list of disorders selected based upon the American College of Medical Genetics (ACMG) recommendations for newborn screening. Additional disorders were added to Oreana that were either part of the differential diagnosis or met the criteria listed above.
A MANAGEABLE CONDITION IS IDENTIFIED IN ABOUT 1 in 300 NEWBORNS*
Oreana neonatal screening can identify infants who are affected by a manageable or treatable disease soon after birth, before the onset of symptoms. The disorders tested could have detrimental effects on normal development, even lead to death. Most of these diseases have a vast array of symptoms once they manifest, making diagnosis lengthy and complicated. With timely detection, Oreana gives you the opportunity to take informed and early decisions on the best clinical management for your patient.
Oreana can also be used to identify genetic diseases in newborns, infants or children who present with a variety of clinical symptoms.
*Data collected from Centers for Disease Control and Prevention (2012); CDC Grand Rounds: Newborn screening and improved outcomes, and is based on screening of 29 diseases included in the core conditions of the Recommended Uniform Screening Panel.
WHO IS Oreana NEONATAL SCREENING FOR?
Asymptomatic newborns and infants for early detection
Newborns, infants or young children presenting with a clinical phenotype, for identification of the disease-causing variant
Oreana can benefit all newborns and infants, irrespective of their family’s genetic history. The conditions tested by Oreana may be inherited from carrier parents who are unaware of their genetic status to their children, they may have a hereditary component or no previous disease manifestation in the family history. Oreana neonatal screening can help in identifying and treating the affected child early, but also with providing the family with useful information on their genetic background and future family planning.
WHY CHOOSE Oreana NEONATAL SCREENING?
- Results are reported quickly, to accommodate for timely and effective interventions
- Complements national newborn screening programs
- Testing for clinically actionable and highly penetrant mutations
- Superior targeted genomic analysis, targeting all coding sequences of the tested genes
- Expandable panel of disorders
- High precision and accuracy
- High sensitivity and specificity
- Non-invasive, painless and safe for the infant
WHY RECOMMEND Oreana IN ADDITION TO NEONATAL SCREENING?
National newborn screening programs offer great advantages for infants, their families and national health systems. However, because they are subjected to each country's regulations, healthcare system and available funds, implementation of changes, such as use of more advanced technology or addition of clinically important diseases, can take time. As a result, the number of conditions tested is vastly different throughout Europe and the world; some countries perform newborn screening ranging from only 2 disorders to over 35.
With Oreana neonatal screening, 106 conditions that are treatable or manageable can be detected before appearance of clinical signs in asymptomatic newborns. With early interventions, irreversible damages to the infant can be limited or prevented, benefiting their quality of life. Additionally, accurate identification of disease-causing variants in symptomatic newborns can signify the start of beneficial, therapeutic treatment.
* Data collected from Centers for Disease Control and Prevention (2012); CDC Grand Rounds: Newborn screening and improved outcomes, and is based on screening of 29 diseases included in the core conditions of the Recommended Uniform Screening Panel.
WHAT ARE THE BENEFITS OF EARLY DETECTION?
- Prevent the onset of symptoms
- Minimize the severity of symptoms
- Limit irreparable health damage
- Avoid a late and lengthy diagnosis
- Start early interventions and clinical management
- Advice on available experimental therapies or clinical trials, where appropriate
Oreana uses a targeted genomic analysis and a robust, validated multiengine analysis platform to screen for clinically actionable, highly penetrant gene mutations with high sensitivity and specificity.
Oreana neonatal screening is based on a novel, target capture enrichment technology that has been thoroughly validated for its accuracy and precision.
Oreana screens for all coding regions on the genes tested, examining single nucleotide variants, small insertions and deletions and copy number variants.
Innovative bioinformatics pipelines analyze the sequencing data produced from each sample, increasing the sensitivity and specificity of Oreana neonatal screening.
WHEN IS THE OPTIMAL TIME TO PERFORM Oreana?
Oreana neonatal screening can be performed anytime after the first 24 hours of birth, up to early childhood. For many of the disorders tested by Oreana, the age of diagnosis can determine the prognosis and severity of symptoms. Since the introduction of newborn screening programs, earlier detection and starting treatment as soon as possible have improved the life expectancy and quality of life of affected infants.
WHAT WILL THE REPORT TELL ME?
Positive or negative results on mutations detected
Thorough interpretation and significance of any positive mutations detected
Variants of Unknown Significance (VUS) are not reported. Inconclusive results may occasionally be issued.